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Skeletal dysplasia

Gene: CEP41

Red List (low evidence)

CEP41 (centrosomal protein 41)
EnsemblGeneIds (GRCh38): ENSG00000106477
EnsemblGeneIds (GRCh37): ENSG00000106477
OMIM: 610523, Gene2Phenotype
CEP41 is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three families reported in 2012, none since.
Created: 19 Mar 2021, 10:08 a.m. | Last Modified: 19 Mar 2021, 10:08 a.m.
Panel Version: 0.6782

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 15, MIM# 614464

Publications

History Filter Activity

17 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CEP41 was added gene: CEP41 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory Mode of inheritance for gene: CEP41 was set to